Relationship between H19 genetic polymorphisms and the risk of unexplained recurrent miscarriage in a Chinese population: a population-based study

Objective: This study was aimed to explore relationship between H19 genetic polymorphisms (rs2067051, rs2251375, rs217727 and rs4929984) and the risk of unexplained recurrent miscarriage (RM) in a Chinese population. Methods: From June 2011 to April 2014, 312 female patients diagnosed with unexplained RM (RM group) and 357 normal pregnant women without history of spontaneous abortion and abnormal childbearing (control group) were selected. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect genetic polymorphisms of rs2067051, rs2251375, rs217727 and rs4929984 in the H19 gene. Results: The frequency of heterozygote (CT), mutanttype (TT) and T allele of rs217727 in the RM group were higher than that in the control group (P < 0.05). The subjects with TT genotype had 3.234 times higher risk of unexplained RM than those with wild type (CC) (OR = 3.234, 95% CI = 1.706~6.130), and the subjects with T allele exhibited 1.531 times higher risk of unexplained RM than those with C allele (OR = 1.531, 95% CI = 1.008~2.324). However, rs2067051, rs2251375 and rs4929984 genetic polymorphisms were not associated with the risk of unexplained RM (P > 0.05). Logistic regression analysis indicated that GACC haplotype was the protective factor for unexplained RM (P < 0.05), while uterine dysplasia, rs217727 polymorphism, GATC and GCTC haplotypes were independent risk factors for unexplained RM (P < 0.05). Conclusion: Our data indicated that rs217727 genetic polymorphism in the H19 gene was an independent risk factor for unexplained RM in a Chinese population.